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I ran a search for a disease in Monarch and pulled up a list of genes, but don't see any way to download them for a downstream analysis - can you assist?
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Recreate: From phenotype tab on disease page (http://beta.monarchinitiative.org/disease/DOID:863) click on a disease to go to its page. You land on the Compare tab (I would expect to land on the Over…
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mRNA SPCC18.18c.1: can't find new term for hereditary leiomyomatosis in mapping for mondo: failed to load qualifier 'term=disease associated, hereditary leiomyomatosis; date=20060920' from SPCC18.18…
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- [x] Use `wget https://data.monarchinitiative.org/genophenoenvo/vcf/all_combined.filtered.recode.allseasons.vcf.gz --no-check-certificate` to push data rom @kshefchek into CyVerse VICE Docker Contain…
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I'd like to request a DO term for Winchester Syndrome.
Publication:
https://pubmed.ncbi.nlm.nih.gov/29741626/
OMIM entry:
https://omim.org/entry/277950
Monarch entry:
https://monarchinitiative…
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this issue depends on completion of issue #299
we will discuss this issue after the hackathon
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1. add seminal work references
2. add description
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Hi,
i'm looking for a DO term for Burn-McKeown Syndrome, but i'm not finding it.
this is the paper i need this term for:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259969/pdf/main.pdf
oth…
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**Please describe your question, suggestion, or concern.**
I am having trouble understanding why "hydatidiform mole, recurrent, 2" is listed on this page. I was expecting only to see a list of phenot…
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**Preferred term label:** Humerus fracture
**Synonyms** Broken humerus; Fracture of the humerus
**Definition (free text, please give PubMed ID)** Fracture of the humerus.
**Parent term …